title: Partial trisomy 1q in idiopathic myelofibrosis.
abstract: Three cases of idiopathic myelofibrosis with partial trisomy of the long arm of chromosome 1 are described. Partial trisomy 1q was the only karyotypic change detectable in unstimulated peripheral blood cell cultures of one and bone-marrow cultures of two patients at diagnosis. The extra segment from chromosome 1 was located on different karyotype sites, i.e. 1qter, 1p34 and 6p22-23; 1q21-32 was the shortest overlapping region and the only trisomic segment in one of the three patients. These findings suggest that partial trisomy 1q is a primary chromosome aberration in myelofibrosis relevant in the pathogenesis of this hematologic disorder.
authors.affiliation: Istituto di Clinica Medica I, Università di Perugia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Donti
authors.forename: A
authors.initials: A
authors.lastname: Tabilio
authors.forename: F
authors.initials: F
authors.lastname: Bocchini
authors.forename: F
authors.initials: F
authors.lastname: Falzetti
authors.forename: M F
authors.initials: MF
authors.lastname: Martelli
authors.forename: F
authors.initials: F
authors.lastname: Grignani
authors.forename: G V
authors.initials: GV
authors.lastname: Donti
mesh_terms: D000368:Aged; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D055728:Primary Myelofibrosis / Q000235:genetics*; D014314:Trisomy